Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
Open Access
- 1 March 1995
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (3) , 227-230
- https://doi.org/10.1136/jmg.32.3.227
Abstract
We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere and satellite stalks at 13q12.11: 46,XY,psu dic(13)(13pter-->13q12.11::13p12-->13q11.00:: 13q12.11-->13qter). Their phenotypically normal mother appears to carry the same pseudodicentric chromosome 13.Keywords
This publication has 13 references indexed in Scilit:
- Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.Journal of Medical Genetics, 1994
- Three patients with ring (X) chromosomes and a severe phenotype.Journal of Medical Genetics, 1993
- Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.1992
- Genomic imprinting: review and relevance to human diseases.1990
- Autosomal dominant inheritance of the Kabuki make‐up (Niikawa‐Kuroki) syndromeAmerican Journal of Medical Genetics, 1989
- Kabuki make‐up (Niikawa‐Kuroki) syndrome: A study of 62 patientsAmerican Journal of Medical Genetics, 1988
- Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiencyThe Journal of Pediatrics, 1981
- A case of (13q;18q) translocation with proximal 13q monosomyHuman Genetics, 1977
- Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformationsClinical Genetics, 1976
- De novo (11;13) translocationHuman Genetics, 1975